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rs80359230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359230(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32396995
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359230
ebirs80359230
HLIrs80359230
Exacrs80359230
Varsomers80359230
Maprs80359230
PheGenIrs80359230
hapmaprs80359230
1000 genomesrs80359230
hgdprs80359230
ensemblrs80359230
gopubmedrs80359230
geneviewrs80359230
scholarrs80359230
googlers80359230
pharmgkbrs80359230
gwascentralrs80359230
openSNPrs80359230
23andMers80359230
23andMe allrs80359230
SNP Nexus

SNPshotrs80359230
SNPdbers80359230
MSV3drs80359230
GWAS Ctlgrs80359230
Max Magnitude6
rs80359230, also known as S3200X, c.9599C>G and p.Ser3200Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359230(G;G)
Alt rs80359230(G;G)
Reference rs80359230(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32971132C>G
CLNSRC ClinVar
CLNACC RCV000031836.4, RCV000045864.2,